CNOT6L — 39 ClinVar variants
All ClinVar germline CNOT6L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Benign · 2 Likely benign · 35 Uncertain significance
Full CNOT6L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNOT6L p.Ala60Val Uncertain significance Single submitter
- CNOT6L p.Arg105Gly Uncertain significance Single submitter
- CNOT6L p.Arg17Cys Uncertain significance Single submitter
- CNOT6L p.Asn143Ser Uncertain significance Single submitter
- CNOT6L p.Asn30Thr Uncertain significance Single submitter
- CNOT6L p.Asn401His Uncertain significance Single submitter
- CNOT6L p.Asn450Ser Uncertain significance Single submitter
- CNOT6L p.Asn472Asp Uncertain significance Single submitter
- CNOT6L p.Asn516Ser Uncertain significance Single submitter
- CNOT6L p.Asn553Asp Uncertain significance Single submitter
- CNOT6L p.Glu387Ala Uncertain significance Single submitter
- CNOT6L p.Ile346Val Uncertain significance Single submitter
- CNOT6L p.Lys433Glu Uncertain significance Single submitter
- CNOT6L p.Met445Thr Uncertain significance Single submitter
- CNOT6L p.Phe435Leu Uncertain significance Single submitter
- CNOT6L p.Pro540His Uncertain significance Single submitter
- CNOT6L p.Ser47Asn Uncertain significance Single submitter
- CNOT6L p.Ser531Pro Uncertain significance Single submitter
- CNOT6L p.Ser69Thr Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CNOT6L p.Arg180Gln Uncertain significance Single submitter
- CNOT6L p.Arg204Gln Uncertain significance Single submitter
- CNOT6L p.Arg257Leu Uncertain significance Single submitter
- CNOT6L p.Arg554Trp Uncertain significance Single submitter
- CNOT6L p.Arg70His Uncertain significance Single submitter
- CNOT6L p.Asp260Ala Uncertain significance Single submitter
- CNOT6L p.Glu514Gln Uncertain significance Single submitter
- CNOT6L p.Ile285Val Uncertain significance Single submitter
- CNOT6L p.Ile403Met Uncertain significance Single submitter
- CNOT6L p.Lys351Gln Uncertain significance Single submitter
- CNOT6L p.Met272Val Uncertain significance Single submitter
- CNOT6L p.Pro16Thr Uncertain significance Single submitter
- CNOT6L p.Pro185Leu Uncertain significance Single submitter
- CNOT6L p.Pro509Arg Uncertain significance Single submitter
- CNOT6L p.Ser54Ala Uncertain significance Single submitter
- CNOT6L p.Val546Ile Uncertain significance Single submitter
All CNOT6L variants
Benign 2
- c.5+229GT[14] Single submitter
- c.5+229GT[23] Single submitter
Likely benign 2
- c.5+229GT[20] Single submitter
- p.Leu474= Single submitter
Uncertain significance 35
- p.Ala60Val Single submitter ⚠
- p.Arg105Gly Single submitter ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg257Leu Single submitter ⚠
- p.Arg554Trp Single submitter ⚠
- p.Arg70His Single submitter ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asn30Thr Single submitter ⚠
- p.Asn401His Single submitter ⚠
- p.Asn450Ser Single submitter ⚠
- p.Asn472Asp Single submitter ⚠
- p.Asn516Ser Single submitter ⚠
- p.Asn553Asp Single submitter ⚠
- p.Asp260Ala Single submitter ⚠
- p.Glu387Ala Single submitter ⚠
- p.Glu514Gln Single submitter ⚠
- p.Ile285Val Single submitter ⚠
- p.Ile346Val Single submitter ⚠
- p.Ile403Met Single submitter ⚠
- p.Lys351Gln Single submitter ⚠
- p.Lys433Glu Single submitter ⚠
- p.Met272Val Single submitter ⚠
- p.Met445Thr Single submitter ⚠
- p.Phe435Leu Single submitter ⚠
- p.Pro16Thr Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro509Arg Single submitter ⚠
- p.Pro540His Single submitter ⚠
- p.Ser47Asn Single submitter ⚠
- p.Ser531Pro Single submitter ⚠
- p.Ser54Ala Single submitter ⚠
- p.Ser69Thr Single submitter ⚠
- p.Val546Ile Single submitter ⚠